Canonical Allele Identifier: CA751417014

Gene: SLC25A1

Linked Data

• dbSNP Id: rs1284657843
• gnomAD v3: 22-19177016-TG-T
• gnomAD v4: 22-19177016-TG-T
• MyVariant Identifiers: chr22:g.19177017del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19177022del , CM000684.2:g.19177022del	GRCh38
NC_000022.10:g.19164535del , CM000684.1:g.19164535del	GRCh37
NC_000022.9:g.17544535del	NCBI36
NG_033863.1:g.6847del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.527-67del MANE Select	ENSP00000215882.5:n.527-67del
ENST00000215882.9:c.527-67del	ENSP00000215882.5:n.527-67del
ENST00000451283.5:c.218-67del	ENSP00000401480.1:n.218-67del
ENST00000461267.1:n.673-67del
ENST00000470922.5:n.669-67del
NM_001256534.1:c.548-67del	NP_001243463.1:n.548-67del
NM_001287387.1:c.218-67del	NP_001274316.1:n.218-67del
NM_005984.4:c.527-67del	NP_005975.1:n.527-67del
NR_046298.2:n.578-67del
NM_005984.5:c.527-67del MANE Select	NP_005975.1:n.527-67del
NM_001256534.2:c.548-67del	NP_001243463.1:n.548-67del
NM_001287387.2:c.218-67del	NP_001274316.1:n.218-67del
NR_046298.3:n.451-67del